Canonical Allele Identifier: CA343773535

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878726C>A (hg19) ; chr1:g.173909588C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909588C>A , CM000663.2:g.173909588C>A	GRCh38
NC_000001.10:g.173878726C>A , CM000663.1:g.173878726C>A	GRCh37
NC_000001.9:g.172145349C>A	NCBI36
NG_012462.1:g.12791G>T , LRG_577:g.12791G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1117G>T MANE Select	ENSP00000356671.3:p.Val373Phe
ENST00000367698.3:c.1117G>T	ENSP00000356671.3:p.Val373Phe
ENST00000617423.4:c.560-2095G>T	ENSP00000478688.1:n.560-2095G>T
NM_000488.3:c.1117G>T , LRG_577t1:c.1117G>T	NP_000479.1:p.Val373Phe
XM_005245198.2:c.973G>T	XP_005245255.1:p.Val325Phe
NM_001365052.1:c.973G>T	NP_001351981.1:p.Val325Phe
NM_000488.4:c.1117G>T MANE Select	NP_000479.1:p.Val373Phe
NM_001365052.2:c.973G>T	NP_001351981.1:p.Val325Phe
NM_001386302.1:c.1240G>T	NP_001373231.1:p.Val414Phe
NM_001386303.1:c.1198G>T	NP_001373232.1:p.Val400Phe
NM_001386304.1:c.1096G>T	NP_001373233.1:p.Val366Phe
NM_001386305.1:c.1060G>T	NP_001373234.1:p.Val354Phe
NM_001386306.1:c.901G>T	NP_001373235.1:p.Val301Phe